Human Gene F7 (ENST00000346342.8_7) from GENCODE V47lift37
  Description: coagulation factor VII, transcript variant 4 (from RefSeq NR_051961.2)
Gencode Transcript: ENST00000346342.8_7
Gencode Gene: ENSG00000057593.14_9
Transcript (Including UTRs)
   Position: hg19 chr13:113,760,105-113,774,999 Size: 14,895 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr13:113,760,156-113,773,322 Size: 13,167 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:113,760,105-113,774,999)mRNA (may differ from genome)Protein (444 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FA7_HUMAN
DESCRIPTION: RecName: Full=Coagulation factor VII; EC=3.4.21.21; AltName: Full=Proconvertin; AltName: Full=Serum prothrombin conversion accelerator; Short=SPCA; AltName: INN=Eptacog alfa; Contains: RecName: Full=Factor VII light chain; Contains: RecName: Full=Factor VII heavy chain; Flags: Precursor;
FUNCTION: Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence of tissue factor and calcium ions, factor VIIa then converts factor X to factor Xa by limited proteolysis. Factor VIIa will also convert factor IX to factor IXa in the presence of tissue factor and calcium.
CATALYTIC ACTIVITY: Selective cleavage of Arg-|-Ile bond in factor X to form factor Xa.
SUBUNIT: Heterodimer of a light chain and a heavy chain linked by a disulfide bond.
SUBCELLULAR LOCATION: Secreted.
TISSUE SPECIFICITY: Plasma.
PTM: The vitamin K-dependent, enzymatic carboxylation of some glutamate residues allows the modified protein to bind calcium.
PTM: The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.
PTM: N-glycosylation at Asn-205 occurs cotranslationally and is mediated by STT3A-containing complexes, while glycosylation at Asn-382 is post-translational and is mediated STT3B-containing complexes before folding.
DISEASE: Defects in F7 are the cause of factor VII deficiency (FA7D) [MIM:227500]. A hemorrhagic disease with variable presentation. The clinical picture can be very severe, with the early occurrence of intracerebral hemorrhages or repeated hemarthroses, or, in contrast, moderate with cutaneous-mucosal hemorrhages (epistaxis, menorrhagia) or hemorrhages provoked by a surgical intervention. Finally, numerous subjects are completely asymptomatic despite very low factor VII levels.
PHARMACEUTICAL: Available under the names Niastase or Novoseven (Novo Nordisk). Used for the treatment of bleeding episodes in hemophilia A or B patients with antibodies to coagulation factors VIII or IX.
SIMILARITY: Belongs to the peptidase S1 family.
SIMILARITY: Contains 2 EGF-like domains.
SIMILARITY: Contains 1 Gla (gamma-carboxy-glutamate) domain.
SIMILARITY: Contains 1 peptidase S1 domain.
WEB RESOURCE: Name=Wikipedia; Note=Factor VII entry; URL="http://en.wikipedia.org/wiki/Factor_VII";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F7";
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/f7/";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F7";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: F7
Diseases sorted by gene-association score: factor vii deficiency* (1714), myocardial infarction* (202), hemophilia a (23), hemophilia (13), hemorrhagic disease (11), von willebrand disease, types 2a, 2b, 2m, and 2n (11), factor v deficiency (10), substernal goiter (10), dubin-johnson syndrome (10), hemophilia b (10), inherited blood coagulation disease (9), carotid stenosis (8), factor x deficiency (8), portal vein thrombosis (7), mesenteric vascular occlusion (7), olfactory groove meningioma (7), budd-chiari syndrome (7), anterior cranial fossa meningioma (7), factor xi deficiency, autosomal recessive (7), uterine inversion (7), visual agnosia (6), hemarthrosis (6), blood coagulation disease (6), ischemic heart disease (5), pulmonary hemosiderosis (5), radiation cystitis (5), malignant skin fibrous histiocytoma (5), coronary artery disease (5), malignant dermis tumor (5), hypoprothrombinemia (5), fructose-1,6-bisphosphatase deficiency (4), cerebrovascular disease (3), heart disease (2), diabetes mellitus, noninsulin-dependent (1), stroke, ischemic (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 51.32 RPKM in Liver
Total median expression: 62.32 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.8051-0.212 Picture PostScript Text
3' UTR -527.601677-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017857 - Coagulation_fac_subgr_Gla_dom
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR000294 - GLA_domain
IPR009003 - Pept_cys/ser_Trypsin-like
IPR012224 - Pept_S1A_FX
IPR018114 - Peptidase_S1/S6_AS
IPR001254 - Peptidase_S1_S6
IPR001314 - Peptidase_S1A

Pfam Domains:
PF00008 - EGF-like domain
PF00089 - Trypsin
PF00594 - Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain
PF09342 - Domain of unknown function (DUF1986)
PF12661 - Human growth factor-like EGF

SCOP Domains:
50494 - Trypsin-like serine proteases
57196 - EGF/Laminin
57184 - Growth factor receptor domain
57630 - GLA-domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1BF9 - NMR MuPIT 1CVW - X-ray MuPIT 1DAN - X-ray MuPIT 1DVA - X-ray MuPIT 1F7E - NMR MuPIT 1F7M - NMR MuPIT 1FAK - X-ray MuPIT 1FF7 - NMR MuPIT 1FFM - NMR MuPIT 1J9C - X-ray MuPIT 1JBU - X-ray MuPIT 1KLI - X-ray MuPIT 1KLJ - X-ray MuPIT 1NL8 - Model 1O5D - X-ray MuPIT 1QFK - X-ray MuPIT 1W0Y - X-ray MuPIT 1W2K - X-ray MuPIT 1W7X - X-ray 1W8B - X-ray 1WQV - X-ray MuPIT 1WSS - X-ray MuPIT 1WTG - X-ray MuPIT 1WUN - X-ray MuPIT 1WV7 - X-ray MuPIT 1YGC - X-ray MuPIT 1Z6J - X-ray MuPIT 2A2Q - X-ray MuPIT 2AEI - X-ray 2AER - X-ray 2B7D - X-ray MuPIT 2B8O - X-ray MuPIT 2BZ6 - X-ray 2C4F - X-ray 2EC9 - X-ray MuPIT 2F9B - X-ray MuPIT 2FIR - X-ray MuPIT 2FLB - X-ray MuPIT 2FLR - X-ray MuPIT 2PUQ - X-ray MuPIT 2ZP0 - X-ray MuPIT 2ZWL - X-ray MuPIT 2ZZU - X-ray MuPIT 3ELA - X-ray MuPIT 3TH2 - X-ray 3TH3 - X-ray 3TH4 - X-ray


ModBase Predicted Comparative 3D Structure on P08709
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005102 receptor binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008236 serine-type peptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0001666 response to hypoxia
GO:0002690 positive regulation of leukocyte chemotaxis
GO:0006508 proteolysis
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0007596 blood coagulation
GO:0007598 blood coagulation, extrinsic pathway
GO:0007599 hemostasis
GO:0007623 circadian rhythm
GO:0009725 response to hormone
GO:0010037 response to carbon dioxide
GO:0010641 positive regulation of platelet-derived growth factor receptor signaling pathway
GO:0014070 response to organic cyclic compound
GO:0016485 protein processing
GO:0030194 positive regulation of blood coagulation
GO:0030335 positive regulation of cell migration
GO:0031100 animal organ regeneration
GO:0031667 response to nutrient levels
GO:0032355 response to estradiol
GO:0032571 response to vitamin K
GO:0033595 response to genistein
GO:0043627 response to estrogen
GO:0050927 positive regulation of positive chemotaxis
GO:0051897 positive regulation of protein kinase B signaling
GO:0060416 response to growth hormone
GO:0061476 response to anticoagulant
GO:0070723 response to cholesterol
GO:0097066 response to thyroid hormone
GO:0097068 response to thyroxine
GO:1904400 response to Thyroid stimulating hormone
GO:1904612 response to 2,3,7,8-tetrachlorodibenzodioxine
GO:1905217 response to astaxanthin
GO:1905225 response to thyrotropin-releasing hormone

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0005796 Golgi lumen
GO:0005886 plasma membrane
GO:0031982 vesicle
GO:1905286 serine-type peptidase complex


-  Descriptions from all associated GenBank mRNAs
  AK310779 - Homo sapiens cDNA, FLJ17821.
AK298404 - Homo sapiens cDNA FLJ55738 complete cds, highly similar to Coagulation factor VII precursor (EC 3.4.21.21).
BC130468 - Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator), mRNA (cDNA clone MGC:163340 IMAGE:40146499), complete cds.
M13232 - Human factor VII serine protease precursor mRNA, complete cds, clone lambda-HVII2463.
AF272774 - Homo sapiens factor VII active site mutant immunoconjugate mRNA, complete cds.
AK311682 - Homo sapiens cDNA, FLJ18724.
AB527973 - Synthetic construct DNA, clone: pF1KB0409, Homo sapiens F7 gene for coagulation factor VII, without stop codon, in Flexi system.
EU557239 - Homo sapiens factor VII mRNA, complete cds.
HQ258414 - Synthetic construct Homo sapiens clone IMAGE:100072843 coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 2 (F7) gene, encodes complete protein.
AK311565 - Homo sapiens cDNA, FLJ18607.
MF806378 - Homo sapiens tissue factor-targeting CAR1 monomer mRNA, complete cds.
MF806379 - Homo sapiens tissue factor-targeting CAR1 dimer mRNA, complete cds.
JD079692 - Sequence 60716 from Patent EP1572962.
JD122802 - Sequence 103826 from Patent EP1572962.
JD089983 - Sequence 71007 from Patent EP1572962.
JD103824 - Sequence 84848 from Patent EP1572962.
JD250181 - Sequence 231205 from Patent EP1572962.
EF421855 - Homo sapiens coagulation factor VII mRNA, partial cds.
AY423856 - Homo sapiens coagulation factor VII mRNA, partial cds.
JD401174 - Sequence 382198 from Patent EP1572962.
JD109421 - Sequence 90445 from Patent EP1572962.
JD089078 - Sequence 70102 from Patent EP1572962.
JD343271 - Sequence 324295 from Patent EP1572962.
JD446791 - Sequence 427815 from Patent EP1572962.
JD063833 - Sequence 44857 from Patent EP1572962.
JD419155 - Sequence 400179 from Patent EP1572962.
JD052838 - Sequence 33862 from Patent EP1572962.
JD084117 - Sequence 65141 from Patent EP1572962.
JD332685 - Sequence 313709 from Patent EP1572962.
JD175171 - Sequence 156195 from Patent EP1572962.
JD065722 - Sequence 46746 from Patent EP1572962.
JD539674 - Sequence 520698 from Patent EP1572962.
JD117713 - Sequence 98737 from Patent EP1572962.
JD338592 - Sequence 319616 from Patent EP1572962.
JD058268 - Sequence 39292 from Patent EP1572962.
JD143870 - Sequence 124894 from Patent EP1572962.
JD466095 - Sequence 447119 from Patent EP1572962.
JD328770 - Sequence 309794 from Patent EP1572962.
JD345456 - Sequence 326480 from Patent EP1572962.
JD179244 - Sequence 160268 from Patent EP1572962.
JD097733 - Sequence 78757 from Patent EP1572962.
JD100365 - Sequence 81389 from Patent EP1572962.
JD097122 - Sequence 78146 from Patent EP1572962.
JD098057 - Sequence 79081 from Patent EP1572962.
JD331681 - Sequence 312705 from Patent EP1572962.
JD097209 - Sequence 78233 from Patent EP1572962.
JD050390 - Sequence 31414 from Patent EP1572962.
JD057623 - Sequence 38647 from Patent EP1572962.
JD097158 - Sequence 78182 from Patent EP1572962.
JD181985 - Sequence 163009 from Patent EP1572962.
JD110355 - Sequence 91379 from Patent EP1572962.
JD332802 - Sequence 313826 from Patent EP1572962.
JD097157 - Sequence 78181 from Patent EP1572962.
JD050251 - Sequence 31275 from Patent EP1572962.
JD269340 - Sequence 250364 from Patent EP1572962.
JD098058 - Sequence 79082 from Patent EP1572962.
JD089007 - Sequence 70031 from Patent EP1572962.
JD050316 - Sequence 31340 from Patent EP1572962.
JD099083 - Sequence 80107 from Patent EP1572962.
JD183096 - Sequence 164120 from Patent EP1572962.
JD097247 - Sequence 78271 from Patent EP1572962.
JD050761 - Sequence 31785 from Patent EP1572962.
JD362717 - Sequence 343741 from Patent EP1572962.
JD050315 - Sequence 31339 from Patent EP1572962.
JD097606 - Sequence 78630 from Patent EP1572962.
JD139489 - Sequence 120513 from Patent EP1572962.
JD097158 - Sequence 78182 from Patent EP1572962.
JD050251 - Sequence 31275 from Patent EP1572962.
JD332802 - Sequence 313826 from Patent EP1572962.
JD272293 - Sequence 253317 from Patent EP1572962.
JD357211 - Sequence 338235 from Patent EP1572962.
JD085036 - Sequence 66060 from Patent EP1572962.
JD162856 - Sequence 143880 from Patent EP1572962.
JD357956 - Sequence 338980 from Patent EP1572962.
JD400270 - Sequence 381294 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_extrinsicPathway - Extrinsic Prothrombin Activation Pathway
h_amiPathway - Acute Myocardial Infarction

Reactome (by CSHL, EBI, and GO)

Protein P08709 (Reactome details) participates in the following event(s):

R-HSA-159761 GGCX gamma-carboxylates F7(21-466) (pro-factor VII)
R-HSA-159868 Furin cleaves pro-factor VII to factor VII
R-HSA-140748 tissue factor (TF) + activated factor VII (F7a) -> TF:F7a complex
R-HSA-140769 factor VII -> factor VIIa
R-HSA-140783 tissue factor (TF) + factor VII (F7) -> TF:F7 complex
R-HSA-140825 TFPI + TF:F7a + factor Xa -> TFPI:TF:F7a:factor Xa
R-HSA-140777 factor X -> factor Xa + factor X activation peptide (TF:F7 catalyst)
R-HSA-140736 factor X -> factor Xa + factor X activation peptide (TF:F7a catalyst)
R-HSA-140823 factor IX -> factor IXa + factor IX activation peptide (TF:F7a catalyst)
R-HSA-159763 Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
R-HSA-159740 Gamma-carboxylation of protein precursors
R-HSA-159782 Removal of aminoterminal propeptides from gamma-carboxylated proteins
R-HSA-1368108 BMAL1:CLOCK,NPAS2 activates circadian gene expression
R-HSA-140834 Extrinsic Pathway of Fibrin Clot Formation
R-HSA-159854 Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
R-HSA-400253 Circadian Clock
R-HSA-140877 Formation of Fibrin Clot (Clotting Cascade)
R-HSA-163841 Gamma carboxylation, hypusine formation and arylsulfatase activation
R-HSA-109582 Hemostasis
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJC8, ENST00000346342.1, ENST00000346342.2, ENST00000346342.3, ENST00000346342.4, ENST00000346342.5, ENST00000346342.6, ENST00000346342.7, FA7_HUMAN, NR_051961, P08709, Q14339, Q5JVF1, Q5JVF2, Q9UD52, Q9UD53, Q9UD54, uc317xiy.1, uc317xiy.2
UCSC ID: ENST00000346342.8_7
RefSeq Accession: NM_019616.4
Protein: P08709 (aka FA7_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.